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Медицинская генетика

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Фрагментный анализ полиморфизма (TG)mTn интрона 8 гена CFTR

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Об авторах

Е. В. Маркова
Красноярский центр репродуктивной медицины
Россия


Д. А. Татару
Красноярский центр репродуктивной медицины
Россия


О. Г. Преда
Красноярский центр репродуктивной медицины
Россия


Список литературы

1. Dequeker E, Stuhrmann M, Morris M et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. European Journal of Human Genetics. 2008:1-15.

2. Ferec C, Cutting GR Assessing the Disease-Liability of Mutations in CFTR. Cold Spring Harbor Perspectives in Medicine. 2012:1-13.

3. Yu J, Chen Z, Ni Y, Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Human Reproduction. 2012;27(1):25-35.

4. Claustres M. Molecular pathology of the CFTR locus in male infertility. Reproductive BioMedicine Online. 2005;10(1):14-41.

5. Radpour R, Gourabi H, Gilani MAS, Dizaj AV. Molecular Study of (TG)m(T)n Polymorphisms in Iranian Males With Congenital Bilateral Absence of the Vas Deferens. Journal of Andrology. 2007;28(4):541-547.

6. Groman, JD, Hefferon TW, Casals T et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. American Journal of Human Genetics. 2004;74:176-179.

7. Gelfi C, Perego M, Righetti PG et al. Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of poly-T tract allelic variants in intron 8 of the CFTR gene. Clinical Chemistry. 1998;44(5):906-913.

8. Tuerlings J, Mol B, Kremer J et al. Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. Fertility and Sterility. 1998;69(5):899-903.

9. Иващенко ТЭ, Баранов ВС. Биохимические и молекулярно-генетические основы патогенеза муковисцидоза. Интермедика, Санкт-Петербург. 2002:256.

10. Huang Q, Ding W, Wei MX. Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population. World Journal of Gastroenterology. 2008;14(12):1925-1930.

11. Du Q, Li Z, Pan Y et al. The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens. BioMed Research International. 2014:1-7.

12. Nam MH, Hijikata M, Tuan LA et al. Variations of the CFTR Gene in the Hanoi-Vietnamese. American Journal of Medical Genetics. 2005;136A:249-253.

13. Millson A, Pont-Kingdon G, Page S, Lyon E. Direct Molecular Haplotyping of the IVS-8 Poly(TG) and PolyT Repeat Tracts in the Cystic Fibrosis Gene by Melting Curve Analysis of Hybridization Probes. Clinical Chemistry. 2005;51(9):1619-1623.

14. Gallati S. Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. Reproductive BioMedicine Online. 2009;19(5):685-694.


Рецензия

Для цитирования:


Маркова Е.В., Татару Д.А., Преда О.Г. Фрагментный анализ полиморфизма (TG)mTn интрона 8 гена CFTR. Медицинская генетика. 2017;16(1):11-19.

For citation:


Markova E.V., Tataru D.A., Preda O.G. CFTR fragment analysis of intron 8 (TG)mTn polymorphism . Medical Genetics. 2017;16(1):11-19. (In Russ.)

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ISSN 2073-7998 (Print)